|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 7105 |
FusionGeneSummary for CHMP2B_MYH9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHMP2B_MYH9 | Fusion gene ID: 7105 | Hgene | Tgene | Gene symbol | CHMP2B | MYH9 | Gene ID | 25978 | 4627 |
| Gene name | charged multivesicular body protein 2B | myosin heavy chain 9 | |
| Synonyms | ALS17|CHMP2.5|DMT1|VPS2-2|VPS2B | BDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA | |
| Cytomap | 3p11.2 | 22q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | charged multivesicular body protein 2bVPS2 homolog Bchromatin modifying protein 2Bvacuolar protein-sorting-associated protein 2-2 | myosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-A | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9UQN3 | P35579 | |
| Ensembl transtripts involved in fusion gene | ENST00000471660, ENST00000263780, ENST00000494980, ENST00000472024, | ENST00000216181, ENST00000475726, ENST00000401701, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 23 X 25 X 7=4025 |
| # samples | 2 | 28 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(28/4025*10)=-3.84549005094438 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CHMP2B [Title/Abstract] AND MYH9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | CHMP2B | GO:0039702 | viral budding via host ESCRT complex | 24878737 |
| Tgene | MYH9 | GO:0001525 | angiogenesis | 16403913 |
| Tgene | MYH9 | GO:0006509 | membrane protein ectodomain proteolysis | 16186248 |
| Tgene | MYH9 | GO:0030048 | actin filament-based movement | 12237319|15845534 |
| Tgene | MYH9 | GO:0031032 | actomyosin structure organization | 24072716 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AI686345 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-3UTR | ENST00000471660 | ENST00000216181 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-intron | ENST00000471660 | ENST00000475726 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-intron | ENST00000471660 | ENST00000401701 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-3UTR | ENST00000263780 | ENST00000216181 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-intron | ENST00000263780 | ENST00000475726 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-intron | ENST00000263780 | ENST00000401701 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-3UTR | ENST00000494980 | ENST00000216181 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-intron | ENST00000494980 | ENST00000475726 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| 5CDS-intron | ENST00000494980 | ENST00000401701 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| intron-3UTR | ENST00000472024 | ENST00000216181 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| intron-intron | ENST00000472024 | ENST00000475726 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
| intron-intron | ENST00000472024 | ENST00000401701 | CHMP2B | chr3 | 87302878 | - | MYH9 | chr22 | 36678673 | + |
Top |
FusionProtFeatures for CHMP2B_MYH9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHMP2B | MYH9 |
| Probable core component of the endosomal sortingrequired for transport complex III (ESCRT-III) which is involvedin multivesicular bodies (MVBs) formation and sorting of endosomalcargo proteins into MVBs. MVBs contain intraluminal vesicles(ILVs) that are generated by invagination and scission from thelimiting membrane of the endosome and mostly are delivered tolysosomes enabling degradation of membrane proteins, such asstimulated growth factor receptors, lysosomal enzymes and lipids.The MVB pathway appears to require the sequential function ofESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostlydissociate from the invaginating membrane before the ILV isreleased. The ESCRT machinery also functions in topologicallyequivalent membrane fission events, such as the terminal stages ofcytokinesis and the budding of enveloped viruses (HIV-1 and otherlentiviruses). ESCRT-III proteins are believed to mediate thenecessary vesicle extrusion and/or membrane fission activities,possibly in conjunction with the AAA ATPase VPS4. | Cellular myosin that appears to play a role incytokinesis, cell shape, and specialized functions such assecretion and capping. During cell spreading, plays an importantrole in cytoskeleton reorganization, focal contacts formation (inthe margins but not the central part of spreading cells), andlamellipodial retraction; this function is mechanicallyantagonized by MYH10. {ECO:0000269|PubMed:20052411}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for CHMP2B_MYH9 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for CHMP2B_MYH9 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for CHMP2B_MYH9 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | MYH9 | P35579 | DB11638 | Artenimol | Myosin-9 | small molecule | approved|investigational |
Top |
RelatedDiseases for CHMP2B_MYH9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CHMP2B | C1836076 | Amyotrophic Lateral Sclerosis, Chmp2B-Related | 2 | UNIPROT |
| Hgene | CHMP2B | C0002736 | Amyotrophic Lateral Sclerosis | 1 | CTD_human;HPO;ORPHANET |
| Hgene | CHMP2B | C0338451 | Frontotemporal dementia | 1 | CTD_human;HPO |
| Hgene | CHMP2B | C0751072 | Frontotemporal Lobar Degeneration | 1 | CTD_human |
| Hgene | CHMP2B | C1833296 | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED | 1 | CTD_human;UNIPROT |
| Tgene | MYH9 | C0403445 | Fechtner syndrome (disorder) | 9 | UNIPROT |
| Tgene | MYH9 | C0398641 | Epstein syndrome (disorder) | 7 | UNIPROT |
| Tgene | MYH9 | C0340978 | May-Hegglin anomaly | 6 | UNIPROT |
| Tgene | MYH9 | C0022661 | Kidney Failure, Chronic | 2 | CTD_human |
| Tgene | MYH9 | C1854520 | SEBASTIAN SYNDROME | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | MYH9 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
| Tgene | MYH9 | C0020544 | Renal hypertension | 1 | CTD_human |
| Tgene | MYH9 | C0027706 | Hereditary nephritis | 1 | CTD_human |
| Tgene | MYH9 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | MYH9 | C1863659 | DEAFNESS, AUTOSOMAL DOMINANT 17 | 1 | UNIPROT |
| Tgene | MYH9 | C2673482 | Increased susceptibility to schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|